Hepatomegaly, and Polyhydramnios

Diseases related with Hepatomegaly and Polyhydramnios

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Polyhydramnios that can help you solving undiagnosed cases.

Top matches:

Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major|alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|hemoglobin bart's hydrops fetalis

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about HB BART'S HYDROPS FETALIS

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Other less relevant matches:

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

High match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

High match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Polyhydramnios

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Narrow chest Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Polyhydramnios. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Brachydactyly Failure to thrive Hypertelorism Polydactyly Ventricular septal defect Cleft palate Hepatic fibrosis Cirrhosis Abnormal heart morphology Abnormality of the liver Hepatosplenomegaly Anemia Premature birth Low-set ears Generalized hypotonia Patent ductus arteriosus Limb undergrowth Frontal bossing Anteverted nares Global developmental delay Elevated hepatic transaminase Edema Abnormal facial shape Hydrops fetalis Respiratory insufficiency Macrocephaly Short ribs Syndactyly Postaxial polydactyly

Rare Symptoms - Less than 30% cases

Pancytopenia Large for gestational age Diastasis recti Nevus flammeus Neonatal hypoglycemia Enlarged kidney Abnormality of the ureter Abnormality of the face Nephroblastoma Abnormality of the outer ear Overgrowth Macroglossia Abnormality of the kidney Umbilical hernia Full cheeks Inguinal hernia Cleft lip Clinodactyly Hemihypertrophy Anterior creases of earlobe Visceromegaly Mesomelia Long philtrum Short neck Respiratory tract infection Sparse hair Wide mouth Abnormality of the pinna Horizontal ribs Hernia Rhizomelia Abdominal wall defect Thoracic dysplasia Wide nasal bridge Postaxial hand polydactyly Skeletal dysplasia Respiratory distress Downslanted palpebral fissures Cholestasis Auricular pit Oral cleft Cryptorchidism Facial asymmetry Pectus excavatum Growth delay Talipes equinovarus Seizures Retrognathia Thrombocytopenia Arthrogryposis multiplex congenita Hepatic failure Immunodeficiency Diarrhea Hypertension Abnormality of the dentition Hyperbilirubinemia Intrauterine growth retardation Decreased fetal movement Microcephaly Preaxial polydactyly Chronic diarrhea Jaundice Proptosis Short long bone Intellectual disability Congestive heart failure Muscle weakness Muscular hypotonia Abnormal intestine morphology Abnormality of the skeletal system Loss of consciousness Inflammation of the large intestine Renal insufficiency Dolichocephaly Hypohidrosis Midface retrusion Upslanted palpebral fissure Rod-cone dystrophy High palate Acidosis Craniosynostosis High forehead Proteinuria Telecanthus Lymphopenia Joint laxity Blepharophimosis Hematuria Combined immunodeficiency Gastrointestinal inflammation Synophrys Abdominal distention Deeply set eye Mandibular prognathia Brachycephaly Prominent nose Cardiomegaly Smooth philtrum Capillary hemangioma Malar flattening Type II transferrin isoform profile Abnormal T cell morphology Macrovesicular hepatic steatosis Micrognathia Abnormal eyebrow morphology Mild global developmental delay Micronodular cirrhosis Asymmetry of the thorax Impaired T cell function Proximal tubulopathy Abnormal cortical gyration Abnormality of iron homeostasis Neurodevelopmental delay Hemifacial hypertrophy Posterior helix pit Congenital megaureter Large placenta Secretory diarrhea Stage 5 chronic kidney disease Fine hair Recurrent upper respiratory tract infections Leukopenia Increased serum iron Aortic regurgitation Abnormality of the hair Depressed nasal ridge Tetralogy of Fallot Brittle hair Aciduria Bifid uvula Sepsis Wide nose Dry skin Delayed puberty Hypoalbuminemia Abnormality of the immune system Small for gestational age Abnormality of the pancreas Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Villous atrophy Curly hair Large forehead Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Iron deficiency anemia Hypergalactosemia Pulmonic stenosis Broad forehead Everted lower lip vermilion Narrow palpebral fissure Patent foramen ovale Chronic kidney disease Widely spaced teeth Cutis laxa Plagiocephaly Sparse eyelashes Left ventricular hypertrophy Nephronophthisis Narrow forehead Microdontia Ectodermal dysplasia Renal cyst Humoral immunodeficiency Galactosuria Sparse eyebrow Cystic hygroma Microtia Portal fibrosis Narrow mouth Osteoporosis Prominent forehead Cognitive impairment Fused teeth Metopic synostosis Bile duct proliferation Polysplenia Renal cortical microcysts Cloverleaf skull Broad philtrum Cholangitis Hypermethioninemia Biliary cirrhosis High anterior hairline Cutaneous finger syndactyly Hypophosphatemia Hip dysplasia Omphalocele Myopathic facies Difficulty climbing stairs Exertional dyspnea Fetal akinesia sequence Esophageal varix Generalized edema Tubulointerstitial fibrosis Limb joint contracture Neoplasm Delayed speech and language development Micropenis Hypoglycemia Autistic behavior Rhabdomyosarcoma Limb-girdle muscular dystrophy Embryonal neoplasm Scoliosis Cleft upper lip Hypodontia Nail dysplasia Coarctation of aorta Small nail Horseshoe kidney Cutaneous syndactyly Cone-shaped epiphysis Atrioventricular canal defect Metaphyseal dysplasia Hamartoma Increased number of teeth Akinesia Portal hypertension Short clavicles Skeletal muscle atrophy Hydrocephalus Pallor Oligohydramnios Pericarditis Preeclampsia Abnormal hemoglobin Pulmonary hypoplasia Ambiguous genitalia Femoral bowing Lateral clavicle hook Pancreatic fibrosis Acetabular spurs Flexion contracture Peripheral neuropathy Cardiomyopathy Reduced tendon reflexes Myopathy Hyporeflexia Dyspnea Difficulty walking Proximal muscle weakness Hyperlordosis Muscular dystrophy Dilated cardiomyopathy Limb muscle weakness Ascites Sudden cardiac death Waddling gait Decreased liver function Exercise intolerance Spinal canal stenosis Median cleft lip Focal-onset seizure Hypoplasia of the corpus callosum Flat acetabular roof Metaphyseal cupping Renal phosphate wasting Hypoplastic ischia Hypoplastic vertebral bodies Vertebral hypoplasia Anterior rib cupping Hypoplastic pubic bone Abnormally ossified vertebrae Squared iliac bones Severe platyspondyly Posterior rib cupping Ventriculomegaly Cerebellar atrophy Bell-shaped thorax Vomiting Cerebral atrophy Recurrent infections Hyperhidrosis Cerebral cortical atrophy Hyperkeratosis Neonatal hypotonia Aggressive behavior Muscular hypotonia of the trunk Abnormal cardiac septum morphology Malabsorption Hepatic steatosis Abnormal bleeding Decreased antibody level in blood Delayed epiphyseal ossification Protuberant abdomen Vaginal atresia Short palm Complete atrioventricular canal defect Accessory oral frenulum Bilateral postaxial polydactyly Hydrometrocolpos Hypoplasia of the epiglottis Partial atrioventricular canal defect Short nose Delayed skeletal maturation Recurrent respiratory infections Severe short stature Respiratory failure Joint stiffness Platyspondyly Micromelia Small hand Flat occiput Short foot Tapered finger Short metacarpal Blue sclerae Abnormality of the metaphysis Broad thumb Large fontanelles Abnormality of epiphysis morphology Wide anterior fontanel Recurrent pneumonia Disproportionate short-limb short stature Relative macrocephaly Prominent supraorbital ridges Metaphyseal irregularity Abnormalities of placenta or umbilical cord


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